23359005: Multiple malformation syndrome with facial-limb defects as major feature (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature

\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2007841000052110 multipelt missbildningssyndrom med ansikts- och extremitetsdefekter som mest väsentliga särdrag sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple malformation syndrome with facial-limb defects as major feature	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	Limb structure	false	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	Limb structure	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Occurrence	Congenital	true	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	Face structure	true	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Occurrence	Congenital	false	Inferred relationship	Some	3
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	Limb structure	false	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	Face structure	false	Inferred relationship	Some	3
Multiple malformation syndrome with facial-limb defects as major feature	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Duplication of eyebrow and syndactyly syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Intellectual disability, polydactyly, uncombable hair syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Dislocation of hip and facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Keipert syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Verloove Vanhorick Brubakk syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
oto-palato-digitalt syndrom	Is a	False	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Choanal atresia with radial ray hypoplasia	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Robin sequence and oligodactyly syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Jawad syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Zechi Ceide syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Emery Nelson syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Arthrogryposis and ectodermal dysplasia syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Femoral hypoplasia - unusual facies syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Acrofrontofacionasal dysostosis type 2	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Camptodactyly syndrome Guadalajara type 3 (disorder)	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Is a	True	Multiple malformation syndrome with facial-limb defects as major feature	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
39212019	Multiple malformation syndrome with facial-limb defects as major feature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752870014	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2007841000052110	multipelt missbildningssyndrom med ansikts- och extremitetsdefekter som mest väsentliga särdrag	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)